gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002136 (SAS)
Exomes Max Group AF
0.00002329 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128868G>C , CM000684.2:g.42128868G>C | GRCh38 |
| NC_000022.10:g.42524870G>C , CM000684.1:g.42524870G>C | GRCh37 |
| NC_000022.9:g.40854814G>C | NCBI36 |
| NG_008376.3:g.6124C>G | |
| NG_008376.4:g.6943C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.429C>G | ENSP00000353241.6:p.Arg143= | |
| ENST00000645361.2:c.582C>G MANE Select | ENSP00000496150.1:p.Arg194= | |
| ENST00000359033.4:c.429C>G | ENSP00000351927.4:p.Arg143= | |
| ENST00000360124.9:c.249C>G | ENSP00000353241.5:p.Arg83= | |
| ENST00000360608.9:c.582C>G | ENSP00000353820.5:p.Arg194= | |
| ENST00000389970.7:c.516C>G | ENSP00000374620.4:p.Arg172= | |
| ENST00000488442.1:n.1306C>G | ||
| NM_000106.5:c.582C>G | NP_000097.3:p.Arg194= | |
| NM_001025161.2:c.429C>G | NP_001020332.2:p.Arg143= | |
| XM_011529966.1:c.582C>G | XP_011528268.1:p.Arg194= | |
| XM_011529967.1:c.582C>G | XP_011528269.1:p.Arg194= | |
| XM_011529968.1:c.582C>G | XP_011528270.1:p.Arg194= | |
| XM_011529969.1:c.438C>G | XP_011528271.1:p.Arg146= | |
| XM_011529970.1:c.429C>G | XP_011528272.1:p.Arg143= | |
| XM_011529971.1:c.438C>G | XP_011528273.1:p.Arg146= | |
| XM_011529972.1:c.582C>G | XP_011528274.1:p.Arg194= | |
| NM_000106.6:c.582C>G MANE Select | NP_000097.3:p.Arg194= | |
| NM_001025161.3:c.429C>G | NP_001020332.2:p.Arg143= |